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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs11807493

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:99553031 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.151725 (40160/264690, TOPMED)
A=0.106590 (17647/165560, ALFA)
A=0.156439 (21883/139882, GnomAD) (+ 15 more)
A=0.1218 (610/5008, 1000G)
A=0.1125 (504/4480, Estonian)
A=0.1095 (422/3854, ALSPAC)
A=0.1054 (391/3708, TWINSUK)
A=0.0720 (150/2084, HGDP_Stanford)
A=0.1620 (279/1722, HapMap)
A=0.117 (117/998, GoNL)
A=0.118 (71/600, NorthernSweden)
A=0.102 (22/216, Qatari)
C=0.44 (37/84, SGDP_PRJ)
A=0.07 (3/40, GENOME_DK)
C=0.50 (7/14, Siberian)
A=0.50 (7/14, Siberian)
C=0.5 (2/4, Ancient Sardinia)
A=0.5 (2/4, Ancient Sardinia)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
None
Publications
0 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p13 chr 1 NC_000001.11:g.99553031C>A
GRCh37.p13 chr 1 NC_000001.10:g.100018587C>A
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 165560 C=0.893410 A=0.106590
European Sub 144476 C=0.898779 A=0.101221
African Sub 6676 C=0.7190 A=0.2810
African Others Sub 242 C=0.727 A=0.273
African American Sub 6434 C=0.7187 A=0.2813
Asian Sub 674 C=0.999 A=0.001
East Asian Sub 542 C=1.000 A=0.000
Other Asian Sub 132 C=0.992 A=0.008
Latin American 1 Sub 752 C=0.868 A=0.132
Latin American 2 Sub 6330 C=0.9509 A=0.0491
South Asian Sub 184 C=0.951 A=0.049
Other Sub 6468 C=0.8876 A=0.1124


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
TopMed Global Study-wide 264690 C=0.848275 A=0.151725
gnomAD - Genomes Global Study-wide 139882 C=0.843561 A=0.156439
gnomAD - Genomes European Sub 75818 C=0.89305 A=0.10695
gnomAD - Genomes African Sub 41850 C=0.71171 A=0.28829
gnomAD - Genomes American Sub 13618 C=0.92422 A=0.07578
gnomAD - Genomes Ashkenazi Jewish Sub 3320 C=0.8741 A=0.1259
gnomAD - Genomes East Asian Sub 3128 C=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2148 C=0.8794 A=0.1206
1000Genomes Global Study-wide 5008 C=0.8782 A=0.1218
1000Genomes African Sub 1322 C=0.6747 A=0.3253
1000Genomes East Asian Sub 1008 C=1.0000 A=0.0000
1000Genomes Europe Sub 1006 C=0.9115 A=0.0885
1000Genomes South Asian Sub 978 C=0.943 A=0.057
1000Genomes American Sub 694 C=0.950 A=0.050
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.8875 A=0.1125
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.8905 A=0.1095
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.8946 A=0.1054
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 C=0.9280 A=0.0720
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 C=1.000 A=0.000
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 C=0.969 A=0.031
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 C=0.934 A=0.066
HGDP-CEPH-db Supplement 1 Europe Sub 320 C=0.928 A=0.072
HGDP-CEPH-db Supplement 1 Africa Sub 242 C=0.636 A=0.364
HGDP-CEPH-db Supplement 1 America Sub 216 C=0.986 A=0.014
HGDP-CEPH-db Supplement 1 Oceania Sub 72 C=1.00 A=0.00
HapMap Global Study-wide 1722 C=0.8380 A=0.1620
HapMap American Sub 766 C=0.909 A=0.091
HapMap African Sub 690 C=0.714 A=0.286
HapMap Europe Sub 176 C=0.932 A=0.068
HapMap Asian Sub 90 C=1.00 A=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.883 A=0.117
Northern Sweden ACPOP Study-wide 600 C=0.882 A=0.118
Qatari Global Study-wide 216 C=0.898 A=0.102
SGDP_PRJ Global Study-wide 84 C=0.44 A=0.56
The Danish reference pan genome Danish Study-wide 40 C=0.93 A=0.07
Siberian Global Study-wide 14 C=0.50 A=0.50
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 4 C=0.5 A=0.5
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement C= A
GRCh38.p13 chr 1 NC_000001.11:g.99553031= NC_000001.11:g.99553031C>A
GRCh37.p13 chr 1 NC_000001.10:g.100018587= NC_000001.10:g.100018587C>A
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

75 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 CSHL-HAPMAP ss17358940 Feb 28, 2004 (120)
2 ABI ss44125314 Mar 14, 2006 (126)
3 ILLUMINA ss67122706 Nov 29, 2006 (127)
4 ILLUMINA ss71076195 May 16, 2007 (127)
5 ILLUMINA ss75414376 Dec 06, 2007 (129)
6 HGSV ss84681589 Dec 14, 2007 (130)
7 1000GENOMES ss110890554 Jan 25, 2009 (130)
8 ILLUMINA-UK ss118918989 Feb 15, 2009 (130)
9 KRIBB_YJKIM ss119716406 Dec 01, 2009 (131)
10 ILLUMINA ss160006366 Dec 01, 2009 (131)
11 ENSEMBL ss161288712 Dec 01, 2009 (131)
12 COMPLETE_GENOMICS ss163738519 Jul 04, 2010 (132)
13 ILLUMINA ss171598161 Jul 04, 2010 (132)
14 BUSHMAN ss198832385 Jul 04, 2010 (132)
15 BCM-HGSC-SUB ss205354716 Jul 04, 2010 (132)
16 1000GENOMES ss218548511 Jul 14, 2010 (132)
17 1000GENOMES ss230656629 Jul 14, 2010 (132)
18 ILLUMINA ss479600607 May 04, 2012 (137)
19 ILLUMINA ss479605390 May 04, 2012 (137)
20 ILLUMINA ss480091207 Sep 08, 2015 (146)
21 ILLUMINA ss484599033 May 04, 2012 (137)
22 ILLUMINA ss536726118 Sep 08, 2015 (146)
23 SSMP ss648253758 Apr 25, 2013 (138)
24 ILLUMINA ss778766859 Sep 08, 2015 (146)
25 ILLUMINA ss782746337 Sep 08, 2015 (146)
26 ILLUMINA ss783713162 Sep 08, 2015 (146)
27 ILLUMINA ss831998370 Sep 08, 2015 (146)
28 ILLUMINA ss834226670 Sep 08, 2015 (146)
29 EVA-GONL ss975482761 Aug 21, 2014 (142)
30 JMKIDD_LAB ss1068127507 Aug 21, 2014 (142)
31 1000GENOMES ss1292106808 Aug 21, 2014 (142)
32 DDI ss1425910933 Apr 01, 2015 (144)
33 EVA_GENOME_DK ss1574271318 Apr 01, 2015 (144)
34 EVA_DECODE ss1584861053 Apr 01, 2015 (144)
35 EVA_UK10K_ALSPAC ss1600816433 Apr 01, 2015 (144)
36 EVA_UK10K_TWINSUK ss1643810466 Apr 01, 2015 (144)
37 EVA_SVP ss1712357120 Apr 01, 2015 (144)
38 ILLUMINA ss1751859101 Sep 08, 2015 (146)
39 HAMMER_LAB ss1794807394 Sep 08, 2015 (146)
40 WEILL_CORNELL_DGM ss1918682381 Feb 12, 2016 (147)
41 JJLAB ss2019862650 Sep 14, 2016 (149)
42 USC_VALOUEV ss2147881364 Dec 20, 2016 (150)
43 HUMAN_LONGEVITY ss2165029381 Dec 20, 2016 (150)
44 TOPMED ss2327380174 Dec 20, 2016 (150)
45 ILLUMINA ss2632553602 Nov 08, 2017 (151)
46 ILLUMINA ss2710678270 Nov 08, 2017 (151)
47 GNOMAD ss2758635466 Nov 08, 2017 (151)
48 SWEGEN ss2987305397 Nov 08, 2017 (151)
49 BIOINF_KMB_FNS_UNIBA ss3023694928 Nov 08, 2017 (151)
50 TOPMED ss3084644670 Nov 08, 2017 (151)
51 CSHL ss3343595814 Nov 08, 2017 (151)
52 ILLUMINA ss3626165247 Oct 11, 2018 (152)
53 ILLUMINA ss3630587776 Oct 11, 2018 (152)
54 ILLUMINA ss3632903273 Oct 11, 2018 (152)
55 ILLUMINA ss3633598271 Oct 11, 2018 (152)
56 ILLUMINA ss3634339245 Oct 11, 2018 (152)
57 ILLUMINA ss3635291883 Oct 11, 2018 (152)
58 ILLUMINA ss3636016800 Oct 11, 2018 (152)
59 ILLUMINA ss3637042338 Oct 11, 2018 (152)
60 ILLUMINA ss3637775441 Oct 11, 2018 (152)
61 ILLUMINA ss3640046605 Oct 11, 2018 (152)
62 ILLUMINA ss3642785626 Oct 11, 2018 (152)
63 EGCUT_WGS ss3655390426 Jul 12, 2019 (153)
64 EVA_DECODE ss3687366722 Jul 12, 2019 (153)
65 ACPOP ss3727313876 Jul 12, 2019 (153)
66 ILLUMINA ss3744640214 Jul 12, 2019 (153)
67 EVA ss3746573867 Jul 12, 2019 (153)
68 ILLUMINA ss3772141451 Jul 12, 2019 (153)
69 KHV_HUMAN_GENOMES ss3799574619 Jul 12, 2019 (153)
70 EVA ss3826326447 Apr 25, 2020 (154)
71 HGDP ss3847343732 Apr 25, 2020 (154)
72 SGDP_PRJ ss3849477141 Apr 25, 2020 (154)
73 EVA ss3984814952 Apr 25, 2021 (155)
74 EVA ss4016927680 Apr 25, 2021 (155)
75 TOPMED ss4460690488 Apr 25, 2021 (155)
76 1000Genomes NC_000001.10 - 100018587 Oct 11, 2018 (152)
77 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 100018587 Oct 11, 2018 (152)
78 Genetic variation in the Estonian population NC_000001.10 - 100018587 Oct 11, 2018 (152)
79 The Danish reference pan genome NC_000001.10 - 100018587 Apr 25, 2020 (154)
80 gnomAD - Genomes NC_000001.11 - 99553031 Apr 25, 2021 (155)
81 Genome of the Netherlands Release 5 NC_000001.10 - 100018587 Apr 25, 2020 (154)
82 HGDP-CEPH-db Supplement 1 NC_000001.9 - 99791175 Apr 25, 2020 (154)
83 HapMap NC_000001.11 - 99553031 Apr 25, 2020 (154)
84 Northern Sweden NC_000001.10 - 100018587 Jul 12, 2019 (153)
85 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000001.10 - 100018587 Apr 25, 2021 (155)
86 Qatari NC_000001.10 - 100018587 Apr 25, 2020 (154)
87 SGDP_PRJ NC_000001.10 - 100018587 Apr 25, 2020 (154)
88 Siberian NC_000001.10 - 100018587 Apr 25, 2020 (154)
89 TopMed NC_000001.11 - 99553031 Apr 25, 2021 (155)
90 UK 10K study - Twins NC_000001.10 - 100018587 Oct 11, 2018 (152)
91 ALFA NC_000001.11 - 99553031 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs56823135 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss84681589 NC_000001.8:99730607:C:A NC_000001.11:99553030:C:A (self)
21624, ss110890554, ss118918989, ss163738519, ss198832385, ss205354716, ss479600607, ss1584861053, ss1712357120, ss3642785626, ss3847343732 NC_000001.9:99791174:C:A NC_000001.11:99553030:C:A (self)
2870348, 1583326, 1128674, 1628860, 686859, 598741, 40879, 724311, 1494121, 397718, 1583326, ss218548511, ss230656629, ss479605390, ss480091207, ss484599033, ss536726118, ss648253758, ss778766859, ss782746337, ss783713162, ss831998370, ss834226670, ss975482761, ss1068127507, ss1292106808, ss1425910933, ss1574271318, ss1600816433, ss1643810466, ss1751859101, ss1794807394, ss1918682381, ss2019862650, ss2147881364, ss2327380174, ss2632553602, ss2710678270, ss2758635466, ss2987305397, ss3343595814, ss3626165247, ss3630587776, ss3632903273, ss3633598271, ss3634339245, ss3635291883, ss3636016800, ss3637042338, ss3637775441, ss3640046605, ss3655390426, ss3727313876, ss3744640214, ss3746573867, ss3772141451, ss3826326447, ss3849477141, ss3984814952, ss4016927680 NC_000001.10:100018586:C:A NC_000001.11:99553030:C:A (self)
20291148, 136492, 15302722, 24296823, 11697069299, ss2165029381, ss3023694928, ss3084644670, ss3687366722, ss3799574619, ss4460690488 NC_000001.11:99553030:C:A NC_000001.11:99553030:C:A (self)
ss17358940 NT_028050.13:8207530:C:A NC_000001.11:99553030:C:A (self)
ss44125314, ss67122706, ss71076195, ss75414376, ss119716406, ss160006366, ss161288712, ss171598161 NT_032977.9:69990504:C:A NC_000001.11:99553030:C:A (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs11807493

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post596+ae089ad